Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia, Hepatosplenomegaly |
OMIM:242520 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... |
ORPHA:320391 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... |
OMIM:607136 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... |
OMIM:611252 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Difficu... |
ORPHA:171622 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... |
OMIM:619742 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... |
OMIM:616719 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a... |
OMIM:604326 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Dystonia, Splenomegaly, Cou... |
ORPHA:77260 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity... |
OMIM:617065 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Depress... |
OMIM:615362 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Spasticity, Decreas... |
OMIM:618973 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia, Cerebral cortical atrophy |
ORPHA:622 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Myoclonu... |
ORPHA:139406 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degener... |
OMIM:604484 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Tongue fasciculations, Tet... |
OMIM:618276 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Hypoplasia of the brainstem, Hypertoni... |
OMIM:618730 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... |
ORPHA:204 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Corpus callosum atrophy, Cryptorchidis... |
OMIM:619310 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Respiratory failure, Hyp... |
OMIM:225753 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... |
OMIM:221820 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,... |
OMIM:619389 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary ... |
OMIM:212840 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebra... |
ORPHA:521406 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:171703 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Rft1-Cdg |
|
Hepatomegaly, Ataxia, Cerebral cortical atrophy, Cerebral atrophy |
ORPHA:244310 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Depressi... |
OMIM:615889 |
Nescav Syndrome |
|
Appendicular spasticity, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebral a... |
OMIM:614255 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Cerebellar atrophy, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Polymicrogyria, Simplif... |
ORPHA:1083 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Neonatal respiratory distress, Apnea, Respirat... |
ORPHA:168486 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depres... |
ORPHA:248111 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Depression, Difficulty walking, Cere... |
OMIM:619425 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... |
ORPHA:98 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... |
OMIM:238970 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... |
OMIM:613925 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morpholog... |
ORPHA:2585 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Spastic p... |
OMIM:614409 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Upper limb spasti... |
OMIM:618468 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Cerebral atro... |
OMIM:236270 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... |
OMIM:614372 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Cerebral atrophy, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
Periventricular Nodular Heterotopia 8 |
|
Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu... |
OMIM:611721 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... |
OMIM:614959 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga... |
OMIM:616127 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ata... |
ORPHA:71517 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Tremor |
OMIM:619099 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Congenital Disorder Of Glycosylation, Type Iiz |
|
Appendicular spasticity, Diffuse cerebellar atrophy, Clonus |
OMIM:620201 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, S... |
OMIM:615157 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Cerebellar atrophy, Ataxia, Spastic tetraparesis, Elevated circulating acylcarni... |
OMIM:615838 |
Spinocerebellar Ataxia Type 25 |
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Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spast... |
ORPHA:101111 |
Deafness-Infertility Syndrome |
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Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Classic Galactosemia |
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Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Depres... |
OMIM:605361 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th... |
OMIM:617862 |
Spinocerebellar Ataxia Type 43 |
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Unsteady gait, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Distal... |
ORPHA:497764 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
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Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Bone-marrow foam cells, Thr... |
OMIM:607616 |
Aicardi-Goutieres Syndrome 4 |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Cerebellar atrophy, ... |
OMIM:610333 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... |
ORPHA:240103 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
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Cerebellar atrophy, Cerebral atrophy, Truncal ataxia |
OMIM:611726 |
Machado-Joseph Disease |
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Dilated fourth ventricle, Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Par... |
OMIM:109150 |
Microcephaly, Seizures, And Developmental Delay |
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Cerebellar atrophy, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Neonatal respiratory distress, Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of... |
ORPHA:79243 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Neurodegeneration With Brain Iron Accumulation 7 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Increased... |
OMIM:617916 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Glios... |
OMIM:604377 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
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Cerebellar atrophy, Brain atrophy, Spastic tetraparesis |
OMIM:618741 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
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Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... |
OMIM:618387 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:604218 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness |
OMIM:610003 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, M... |
OMIM:312170 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... |
ORPHA:98759 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... |
ORPHA:79263 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... |
OMIM:619773 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Ataxia, Respiratory insufficiency, Spasticity, Cerebral atrophy, Myoclonus, Recurre... |
OMIM:612015 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... |
OMIM:613811 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vi... |
OMIM:607565 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle we... |
ORPHA:2590 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hyp... |
ORPHA:251347 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Cerebral atr... |
OMIM:614857 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Impaired vibration sen... |
OMIM:159550 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... |
OMIM:208920 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Failure to thrive |
OMIM:615596 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Ventricu... |
OMIM:612936 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Anemia, Choreoathet... |
ORPHA:289916 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... |
OMIM:616981 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Recurrent upper respiratory tract infections, Abnormal pyramidal sign, ... |
ORPHA:352596 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurre... |
ORPHA:98755 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance,... |
OMIM:221770 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Slurred speech, Gait ataxia |
OMIM:619323 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Dysm... |
OMIM:617954 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy |
OMIM:618224 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Somatic sensory dysfunction, Gait ataxia, Hepatosplenomegaly, Progressive ... |
ORPHA:466794 |
Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Gliosis, Dystoni... |
OMIM:256000 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... |
ORPHA:845 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Ataxia, Myoclonus, Brain atrophy, Lethargy, Spasticity |
OMIM:618225 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Elevated circulating creatine kinase concentration... |
OMIM:619054 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... |
OMIM:117360 |
Spastic Ataxia 9, Autosomal Recessive |
|
Premature ovarian insufficiency, Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, D... |
OMIM:618438 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... |
OMIM:607346 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... |
ORPHA:98810 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Brain atrophy, Dystonia, Lethargy, Failure to thrive |
OMIM:618226 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple... |
OMIM:618404 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia |
ORPHA:468661 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Ventriculomegaly, Diffuse cerebral atrophy, Atrophy/Degeneration affecting th... |
OMIM:614946 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Ataxia, Recurrent respiratory infections |
ORPHA:796 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia |
OMIM:617899 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Anemia, Choreoathetosis, Neutropenia,... |
ORPHA:79312 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Involuntary movements, Babinski sign,... |
OMIM:271245 |
Cach Syndrome |
|
Cerebellar atrophy, Premature ovarian insufficiency, Atrophy/Degeneration affecting the brainstem... |
ORPHA:135 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Depression, Gait dis... |
ORPHA:98764 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Cerebellar atrophy, Babinski sign, Cerebral atrophy, Spasticity |
OMIM:619090 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Iro... |
ORPHA:329284 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Anemia, Myoclonus, Hypo... |
OMIM:610539 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:616267 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Hyperkineti... |
OMIM:300957 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity, Ven... |
OMIM:617977 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Hemiparesis, Gliosis, Myoclonus, Ventriculomegaly |
ORPHA:99802 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Hand tremor, Respiratory insufficiency, Limb ataxia, Hypoplasia o... |
OMIM:607596 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Spas... |
OMIM:615095 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... |
OMIM:610978 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Apathy, Shuff... |
ORPHA:306692 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, My... |
OMIM:619971 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Distal sensory impairment, Paralysis |
OMIM:613710 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... |
ORPHA:572 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons |
OMIM:619303 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hyperto... |
ORPHA:33445 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle dilatation,... |
ORPHA:306669 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Ventriculomegaly, Ataxia, Postural tremor, Splenomegaly, Micron... |
OMIM:301072 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypertonia, Dystonia, Lethargy, Failure to thrive |
ORPHA:26792 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opi... |
OMIM:619847 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:619405 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Spastic diplegia, Primary amenorrhea, Gait ataxia, Gonadal dysgenesis... |
OMIM:233400 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Abnormal pyramidal sign, Brain atrophy, Lethargy, Failure to thrive |
OMIM:618228 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordinati... |
ORPHA:363400 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Cerebellar atrophy, Broad-based gait, Apnea, Ataxia, Spastic tetraparesis, ... |
ORPHA:79097 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Impaired vibratory sensation, Inability to walk, Babinski sign, Progressive... |
ORPHA:2596 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:183090 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Abnorma... |
ORPHA:496689 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... |
ORPHA:309162 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f... |
OMIM:301020 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Myoclonus, Lethargy |
ORPHA:1935 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... |
ORPHA:314632 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hepatic steatosis, Gliosis |
OMIM:615119 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Cerebral cort... |
OMIM:606438 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... |
OMIM:616479 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign... |
OMIM:607694 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Ataxia, Spastic paraplegia, Hyperammonemia, Tetraplegia, Hypogonadism, Dyston... |
ORPHA:254913 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Dys... |
OMIM:618917 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Lower limb spasticity, Waddling gait, Cerebellar atrophy, Degeneration of the lat... |
OMIM:607259 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, D... |
OMIM:193670 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Rigidity, Tremor, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl... |
ORPHA:240085 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Olig... |
ORPHA:412057 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
Purine Nucleoside Phosphorylase Deficiency |
|
Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, Hypouricemia... |
OMIM:613179 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Splenomegaly, Azoosp... |
OMIM:602390 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... |
ORPHA:621 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Ba... |
OMIM:609270 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Pulmonary fibrosis, Glio... |
ORPHA:457240 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,... |
ORPHA:280210 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cerebral atrophy,... |
ORPHA:254886 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... |
ORPHA:289494 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Impaired te... |
OMIM:619686 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ... |
OMIM:614254 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Impaired dis... |
OMIM:616680 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... |
ORPHA:98761 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in c... |
OMIM:614498 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Appendicular spasticity, Recurrent respiratory infections, Cerebellar atrophy, Inability to walk |
OMIM:618324 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia |
OMIM:617207 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Impaired T cell function, Tremor, Splenomegaly, Recurrent candida infections, Decreased s... |
OMIM:201100 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ... |
OMIM:617493 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Athetosis, Decreased body weight, Failure to thrive, Cerebral cortica... |
OMIM:614559 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... |
ORPHA:370980 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Mediastinal lymphadenopathy, Atelectasis, ... |
ORPHA:2302 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dystonia, Depressi... |
ORPHA:216873 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Babinski sign, Dysmetria, Dysdiadoc... |
OMIM:618356 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:617132 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Letha... |
OMIM:233910 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa... |
ORPHA:599373 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Recurrent respiratory infections, Cerebral atrophy, Dysmetria, Gait ataxia |
ORPHA:320385 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... |
OMIM:277460 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Tremor, Splenomegaly, ... |
OMIM:608799 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Cerebellar atrophy, Inability to walk, Hyperammonemia, Recurrent infections, Abn... |
OMIM:614739 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... |
OMIM:302800 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:527497 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Cerebellar atrophy, Overweight, Babinski sign, Spastic dysarthria, Difficulty walk... |
ORPHA:280763 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia, Myoclonus |
OMIM:605899 |
Severe Canavan Disease |
|
Inability to walk, Babinski sign, Decerebrate rigidity, Lethargy, Spasticity |
ORPHA:314911 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dystonia, Failure to ... |
OMIM:300475 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait a... |
OMIM:618321 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Gait di... |
OMIM:603896 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... |
OMIM:605258 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Cog7-Cdg |
|
Cerebellar atrophy, Small for gestational age, Elevated circulating creatine kinase concentration... |
ORPHA:79333 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... |
ORPHA:508093 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... |
OMIM:608106 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... |
ORPHA:99013 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Splenomegaly, Apnea, Ataxia |
OMIM:617767 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic... |
ORPHA:3240 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:248500 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... |
ORPHA:363429 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Ventriculomegaly, Thrombocytopenia |
ORPHA:1980 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... |
ORPHA:445062 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Recurrent upper respiratory tract infections, Babinski sign... |
ORPHA:225147 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:613502 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre... |
OMIM:137440 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Recurrent pneumonia, Neurodegenerat... |
OMIM:214150 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacter... |
ORPHA:98813 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea, Bronchiectasis, A... |
OMIM:612387 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, I... |
OMIM:258450 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Le... |
ORPHA:247525 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Athetosis, Dystonia, Loss ... |
OMIM:617951 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,... |
OMIM:614307 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia |
ORPHA:2398 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... |
OMIM:614299 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... |
OMIM:619126 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brainstem, Cerebe... |
OMIM:608027 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Pachygyria, Lissencephaly, Myoclonus, Polymicrogyria |
OMIM:617507 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Recurrent infections, Cerebellar vermis ... |
OMIM:616721 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... |
OMIM:614867 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infancy, Falls, G... |
OMIM:618222 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... |
OMIM:277470 |
Cog4-Cdg |
|
Neonatal sepsis, Ataxia, Failure to thrive in infancy, Recurrent upper respiratory tract infectio... |
ORPHA:263501 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmon... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomega... |
OMIM:613489 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postur... |
ORPHA:98805 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy, Ataxia, Dystonia |
OMIM:246900 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysme... |
OMIM:614381 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu... |
OMIM:620327 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... |
ORPHA:254864 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia |
OMIM:618879 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... |
OMIM:169500 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Clumsiness |
ORPHA:158 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu... |
ORPHA:313772 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:2432 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Interstitial Lung Disease 2 |
|
Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pu... |
OMIM:178500 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Failure to thrive, Incoordination, Ataxia, Clonus, Tetraplegia, Cerebral atro... |
OMIM:616034 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Dyspnea, Ascites |
ORPHA:87876 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Axonal degeneration, Recu... |
OMIM:620011 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natura... |
ORPHA:167 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Recurrent pneumonia, Cerebral... |
OMIM:616271 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Leukop... |
ORPHA:27 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Failure to thrive, Spastic tetraplegia, Dystonia |
OMIM:618237 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly, Abnormal pyramidal sign, At... |
ORPHA:834 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Cere... |
OMIM:619922 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ... |
ORPHA:683 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr... |
OMIM:248800 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, R... |
OMIM:617193 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... |
ORPHA:79230 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Hyperammonemia, Cerebral atrophy, Hyperglycinemia, D... |
OMIM:606054 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia, Gait imbalance |
ORPHA:673 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... |
OMIM:222748 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Ataxia, Hyperammonemia, Hyperisoleu... |
ORPHA:2394 |
Gaba-Transaminase Deficiency |
|
Lethargy, Cerebellar hypoplasia |
OMIM:613163 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocyt... |
OMIM:603552 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia, Cerebral atrophy |
OMIM:618637 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, El... |
OMIM:614871 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Hyperglutaminemia |
OMIM:618412 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Dystonia, Respirato... |
OMIM:615512 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis |
OMIM:608033 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Spasticity, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly |
OMIM:300215 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Cerebral... |
OMIM:618567 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Decreased circulating total IgM, Decreased circulating... |
OMIM:300861 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Cerebral atrophy, Progressive cerebellar ataxia, ... |
ORPHA:263516 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Cerebral atrophy, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern... |
OMIM:616171 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Inability to walk, Dandy-Walker malformation, Spastic tetraparesis |
ORPHA:438178 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... |
OMIM:610743 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Paralysis |
OMIM:616286 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal medulla oblongata morphology, Abn... |
ORPHA:206448 |
Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo... |
ORPHA:391417 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Lower limb hypertonia, H... |
ORPHA:2169 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Restrictive ventilatory defect, Gait dist... |
ORPHA:101077 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... |
OMIM:614470 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Gait disturbance, Decreased circulating antibody level |
ORPHA:85317 |
Atypical Rett Syndrome |
|
Dystonia, Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired pain sensati... |
ORPHA:3095 |
Scholte Syndrome |
|
Cerebellar atrophy, Micropenis, Abnormal pyramidal sign, Decreased testicular size |
OMIM:300977 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:612692 |
Typhoid |
|
Hepatomegaly, Ataxia, Epistaxis, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphology... |
ORPHA:99745 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Peri... |
ORPHA:300573 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Perisylvian polymicrogyria, Cerebral atrophy |
OMIM:619605 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... |
OMIM:616505 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat... |
OMIM:613561 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T... |
ORPHA:36238 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... |
OMIM:615673 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia |
OMIM:231000 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... |
ORPHA:282166 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Elevate... |
OMIM:614298 |
Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... |
ORPHA:85278 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Tongue fasciculations, Ce... |
OMIM:618170 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Loss of ... |
OMIM:618241 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Fasciculations, Difficulty wal... |
OMIM:610717 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... |
ORPHA:1947 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Simplified gyral... |
OMIM:612389 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... |
OMIM:257200 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... |
OMIM:612656 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hyperto... |
ORPHA:37612 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Clumsiness, Acute lymphoblastic leukemia, Recurrent bacterial infec... |
OMIM:610738 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Increased body weight |
ORPHA:276608 |
Stt3B-Cdg |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... |
ORPHA:369939 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Depression, Hyperuricemia, Brain atrophy, Hypercholesterolemia, Cerebral cortical atroph... |
ORPHA:77296 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Filippi Syndrome |
|
Cerebellar atrophy, Dystonia, Cryptorchidism, Decreased body weight, Ambiguous genitalia |
OMIM:272440 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... |
OMIM:257220 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female libido, Sm... |
ORPHA:330015 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Delayed mena... |
ORPHA:247585 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... |
OMIM:275900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Patent ... |
OMIM:607143 |
Nipah Virus Disease |
|
Respiratory distress, Tremor, Recurrent pharyngitis, Myoclonus, Cough |
ORPHA:99825 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Respiratory insufficiency due to muscle weakness, Tremor, Degen... |
OMIM:159950 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Br... |
ORPHA:98768 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Patent ductus arteriosus, Small for gestational age |
OMIM:610498 |
Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leuko... |
ORPHA:3392 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Elevated circulating alph... |
OMIM:606002 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Lymphadenopathy, N... |
ORPHA:142 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... |
OMIM:618877 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Inability to walk, Spasticity |
OMIM:617086 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam ce... |
OMIM:607625 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Nonproducti... |
ORPHA:2902 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Gliosis, Neutropenia, Agenesis of corpus callosum, Ataxia, Athetosis, Ab... |
ORPHA:506 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... |
OMIM:620282 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypoc... |
ORPHA:391 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Cerebellar hypoplasia, Gait imbalance, Gait ataxia |
ORPHA:488635 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Vacuolated lymphocytes, Depression,... |
ORPHA:228346 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... |
OMIM:610127 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... |
ORPHA:331206 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Recurrent respiratory infections, Cerebral atrophy, Tongue fasciculations, Fa... |
OMIM:618065 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Spasticity, Dandy-Walker malfo... |
OMIM:616154 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... |
ORPHA:477774 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... |
OMIM:617710 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Spastic tetraparesis, Clo... |
ORPHA:544469 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... |
ORPHA:83471 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progre... |
ORPHA:513436 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia |
OMIM:617836 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Babinski sign, D... |
ORPHA:88644 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Hyperalaninemia, Fai... |
ORPHA:927 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Chorea, Hyperammonemia, Opisthotonus, Cerebral atrophy, Tetraparesis, Myoclon... |
OMIM:616672 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Bradyk... |
OMIM:606159 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Hyperhomocystinemia... |
ORPHA:395 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Leukopenia, Neurodegeneration, Lymp... |
OMIM:620210 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ... |
ORPHA:276244 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Bipolar affective disorder, Atrophy of the spinal cord,... |
ORPHA:329308 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Hypertriglyceridem... |
OMIM:300635 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... |
OMIM:618098 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Spastic ataxia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... |
ORPHA:275 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Cerebellar atrophy... |
ORPHA:404454 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Small for gestational age, Megaloblastic an... |
OMIM:277380 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Depression, Clumsiness, Recurrent infections, Subcortic... |
ORPHA:309288 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Depression... |
ORPHA:93256 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea... |
ORPHA:3085 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Precocious puberty, Cryptorchidism, Overweight, ... |
OMIM:616222 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Cerebral corti... |
OMIM:618201 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Stt3A-Cdg |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive |
ORPHA:370921 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... |
OMIM:237300 |
Episodic Ataxia Type 6 |
|
Hemiplegia, Slurred speech, Ataxia, Cerebellar atrophy |
ORPHA:209967 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Depr... |
OMIM:193003 |
Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
Mirage Syndrome |
|
Hyponatremia, Lymphopenia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hyp... |
OMIM:617053 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Chorea, Choreoathetosis, Agenesis of corpus callosum, Intention tremor, Neo... |
ORPHA:209905 |
Glutathionuria |
|
Tremor, Asthma, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia, Elevated circulating gamma-aminobutyric acid ... |
OMIM:271980 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Oc... |
OMIM:608703 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice, Respiratory paralysis |
OMIM:121300 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Poor fine motor coordination, Recurrent otitis media, Hypercholester... |
ORPHA:254531 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Mevalonic Aciduria |
|
Splenomegaly, Ataxia, Cerebral cortical atrophy |
ORPHA:29 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cer... |
OMIM:619272 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Respiratory insufficiency |
OMIM:201550 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia |
OMIM:619071 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Familial Acute Necrotizing Encephalopathy |
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Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity, Abnormal patter... |
ORPHA:88619 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Sim1-Related Prader-Willi-Like Syndrome |
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Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, External genital ... |
ORPHA:398079 |
Ataxia-Telangiectasia |
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Recurrent respiratory infections, Failure to thrive, Lymphopenia, Ataxia, Tremor, Polycystic ovar... |
ORPHA:100 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Respirato... |
ORPHA:367 |
Ogden Syndrome |
|
Torticollis, Cryptorchidism, Cerebral atrophy, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Developmental And Epileptic Encephalopathy 99 |
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Cerebellar atrophy, Perisylvian polymicrogyria, Eyelid myoclonus, Frontotemporal cerebral atrophy... |
OMIM:619606 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... |
OMIM:601104 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Recurrent infectio... |
OMIM:619780 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Cerebellar atrophy, Cerebral atrophy, Myoclonus, Decreased body weight, Failure to thrive |
OMIM:619060 |
Tyrosinemia Type 1 |
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Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Leukodystrophy, Hypomyelinating, 17 |
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Cerebellar atrophy, Inability to walk, Cerebral atrophy |
OMIM:618006 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Hypereosinophilic Syndrome, Idiopathic |
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Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Dystonia 12 |
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Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia |
OMIM:128235 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hypertonia, ... |
ORPHA:79477 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Crigler-Najjar Syndrome Type 1 |
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Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Mohr-Tranebjaerg Syndrome |
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Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cereb... |
ORPHA:1192 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cerebellar vermis hypoplasi... |
OMIM:619383 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous syst... |
OMIM:616239 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Hypospadias, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Abdominal obesity, Hy... |
OMIM:300354 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
Developmental And Epileptic Encephalopathy 5 |
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Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Atrophy/Degeneration affecting the bra... |
OMIM:613477 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Inability to walk, Card... |
ORPHA:26791 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Babinski... |
OMIM:164400 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Tip-toe g... |
ORPHA:216866 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Macrocytic anemia, Ataxia, Pancytopenia, Erythroid hypoplasia, Reticulocytopen... |
OMIM:275350 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen, Cerebellar atrophy, Agenesis of corpus callosum |
ORPHA:89844 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Somatic sensory dysfunction, Hemolytic anemia, Ataxia, Abscess,... |
OMIM:615816 |
Epilepsy, Progressive Myoclonic, 6 |
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Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism... |
ORPHA:3077 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Spasticity, Polymicrogyria |
OMIM:301006 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Infertility, Recurrent sinusitis, Immotile sperm |
OMIM:618449 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplen... |
OMIM:209950 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Loss of ambulation, Frequent falls, Ventriculo... |
OMIM:620166 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Gliosis, Pulmonary hypoplasia, Hepatic periportal n... |
OMIM:231680 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy |
OMIM:619797 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... |
OMIM:208900 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance, Ventriculomegaly |
OMIM:603472 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:616974 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Cerebel... |
OMIM:616354 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... |
ORPHA:254881 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Dysmetria, Dist... |
OMIM:615217 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... |
OMIM:612674 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia |
OMIM:614306 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:611182 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Obesity, Poor fine motor coordinat... |
ORPHA:96184 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... |
ORPHA:309854 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual interstitial p... |
OMIM:614742 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, Hepatiti... |
ORPHA:381 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Ataxia, Dysmetria |
OMIM:618384 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Ventriculomegaly, Apnea, Akinesia, Cardiomegaly, Thrombocytop... |
OMIM:608013 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Macrocytic anemia, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemip... |
ORPHA:98673 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... |
ORPHA:911 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... |
ORPHA:133 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Normocytic hypoplastic anemia, Failure to thrive, Agenesis of cerebellar verm... |
OMIM:610377 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extr... |
OMIM:616299 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased p... |
ORPHA:42 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... |
ORPHA:247815 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Res... |
OMIM:220110 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:619690 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Limb dystonia, Spasticity |
OMIM:619125 |
Susac Syndrome |
|
Somatic sensory dysfunction, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction |
ORPHA:838 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Cerebral palsy, Ataxia, Splenomegaly, Dyspnea, Hemiplegia/hemiparesis, Lymphadenopa... |
ORPHA:36412 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Eleva... |
OMIM:607426 |
Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Polymicrog... |
OMIM:617757 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Waddling gait, Dyspnea, Difficulty walking, Cough, Left ventricular hypertr... |
ORPHA:86812 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mito... |
ORPHA:543470 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li... |
OMIM:616212 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Babinski sign, Unsteady gait, Limb ataxia, Gait ataxia, ... |
OMIM:619259 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... |
ORPHA:108 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... |
ORPHA:99931 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Depressi... |
ORPHA:79264 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Hyperammonemia, Weight loss, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Cerebral cortical atrophy |
OMIM:617481 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Ja... |
ORPHA:858 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign,... |
ORPHA:415 |
Microcephaly, Amish Type |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar h... |
OMIM:607196 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Failure to thrive, Premature ovarian insufficiency,... |
OMIM:212065 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia |
OMIM:613612 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Apnea, Ataxia, Portal ... |
ORPHA:1454 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Cere... |
OMIM:620306 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Slurred... |
OMIM:256550 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Failure to thrive, Bipolar affective disorder, Ataxia, Elevat... |
ORPHA:254892 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Congenital Enterovirus Infection |
|
Respiratory distress, Ventriculomegaly, Abnormal macrophage morphology, Fetal ascites, Thrombocyt... |
ORPHA:292 |
Cerebrotendinous Xanthomatosis |
|
Abnormal lung morphology, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebel... |
ORPHA:909 |
Galactokinase Deficiency |
|
Speech apraxia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestat... |
ORPHA:79237 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Failure to thrive, Dystonia, Abnormal circulating carnitine concentration, Ch... |
ORPHA:431361 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Spastic tetraparesis, Opisthotonus, Elevated circulating 2-hydroxybutyric acid... |
OMIM:605711 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Bradykinesia, Choreo... |
OMIM:261640 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Eyelid myoc... |
OMIM:613839 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... |
OMIM:615273 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Lateral ventricle dilatation, Gliosis, Apraxia, Neuronal loss in central nervous sy... |
OMIM:607485 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... |
OMIM:301082 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Gait ataxia |
OMIM:612075 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Hepatocellular nec... |
OMIM:256810 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... |
OMIM:610217 |
Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Recurrent pneumonia, Ventriculomegaly |
OMIM:615637 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Small scrotum, Ataxia, Cryptorchidism, Gait ataxia, Decreased body weight, Mi... |
OMIM:617164 |
Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... |
OMIM:609981 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Apnea, Cerebral atrophy, Spasticity |
OMIM:618235 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance |
OMIM:617166 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Small scrotum, Cryptorchidism, Inability to walk, Babinski sign, Perisylvian ... |
OMIM:615663 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Elevated hemoglobin A1c, Babinski sign, Cerebral atrophy, Sensory ataxia, Gai... |
OMIM:616192 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... |
ORPHA:442835 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... |
ORPHA:77299 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abnormal pyramid... |
ORPHA:646 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Dystonia, Hyperalaninemia |
OMIM:614654 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Crypto... |
OMIM:614866 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Distal sensory impairme... |
ORPHA:488650 |
Cyclic Vomiting Syndrome |
|
Lethargy, Ataxia |
OMIM:500007 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin... |
OMIM:619386 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Inability to walk, Tetraplegia, Cerebral atrophy, Gait imbalance, Dystonia, S... |
OMIM:619641 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Babinski sign, Spastic tetraplegia, Dystonia |
OMIM:252650 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Oculomotor apraxia, Spasticity, Cere... |
OMIM:614678 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg... |
OMIM:617303 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Ataxia, Progressive spasticity, Ventriculomegaly |
ORPHA:251009 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Dystonia... |
ORPHA:411602 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Substantia nigra hypoin... |
OMIM:618868 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, Neutropenia, Recurrent fungal infections, Recurrent ... |
OMIM:614172 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal dentate nucleus morphology, Torticollis, Dystonia, Ataxia, Parkinsoni... |
ORPHA:48818 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619556 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr... |
OMIM:615084 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus, Cerebral cortical atrophy |
ORPHA:97229 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Tremor, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... |
OMIM:613496 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance |
OMIM:618120 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Para... |
ORPHA:79124 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... |
OMIM:618056 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Vici Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cerebellar vermis hypoplasia, Lymphopenia, E... |
OMIM:242840 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276556 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dystonia, Spasticity |
OMIM:617183 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Recurrent pneum... |
OMIM:619644 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Recurrent respiratory infections, Involuntary movements, Babinski sign, Simpl... |
OMIM:618397 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... |
OMIM:617339 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas... |
OMIM:617622 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619048 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased ... |
OMIM:619802 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dystonia |
OMIM:618729 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Hypospadias, Ataxia, Small for gestational age, Neutropenia, Hyperammonemia, ... |
OMIM:615471 |
Dpm1-Cdg |
|
Cerebellar atrophy, Ataxia, External genital hypoplasia, Elevated circulating creatine kinase con... |
ORPHA:79322 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Cerebellar hypoplasia, Spasticity, Ventriculomegaly |
OMIM:613730 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:465508 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,... |
OMIM:609583 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia, Dyspnea |
ORPHA:75563 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Cerebellar hypoplasia, Neonatal respiratory distress, Respiratory ... |
OMIM:615042 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... |
OMIM:618495 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... |
ORPHA:397596 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Hypospadias, Small for gestational age, Failure to thrive i... |
OMIM:618891 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hepat... |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase ... |
OMIM:614576 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... |
OMIM:614575 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Hepato... |
ORPHA:158057 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal moto... |
ORPHA:79279 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:609924 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276575 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, L... |
ORPHA:93958 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... |
ORPHA:206594 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Pachygyria, Tip-toe gait,... |
OMIM:606612 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Paresthesia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Chorea, Cerebral atrophy, Recurrent infections, Pontocerebe... |
OMIM:619273 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... |
OMIM:606367 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility |
OMIM:619436 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... |
OMIM:300636 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fib... |
OMIM:615630 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Writer's cramp, Parkinsonis... |
ORPHA:157846 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Fetal ascites, Corpus callosum a... |
OMIM:261515 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... |
OMIM:615122 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Perisylvian polymicrogy... |
ORPHA:280195 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Small scrotum, External genital hypoplasia, Impaired temperatur... |
ORPHA:398069 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Gait ataxia, Spasticity, Spastic gait |
ORPHA:496790 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Neutropenia, Spasticity, Opisthotonus, Choreoathetos... |
ORPHA:445038 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circ... |
ORPHA:352447 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet gl... |
OMIM:603585 |
Biotinidase Deficiency |
|
Diffuse cerebral atrophy, Ataxia, Splenomegaly, Hyperammonemia, Lethargy, Diffuse cerebellar atrophy |
OMIM:253260 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Rigidity, Splenomegaly, Oculomotor apraxia, Cerebral atrophy, Anemia, Strido... |
OMIM:230900 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Spasticity, Cerebral atrophy |
OMIM:618008 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Loss of ambulation, Frequent falls, Exertional dy... |
ORPHA:254361 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Abnormal pyramidal sign, Lissencephaly, Decreased body weight, Spasticity, Po... |
OMIM:614833 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... |
OMIM:308240 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:212140 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Intermittent hyperventilation,... |
ORPHA:348 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Spastic tetraparesis |
OMIM:618506 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Lymphopenia, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Rect... |
OMIM:619708 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insuffi... |
ORPHA:1145 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Failure to t... |
ORPHA:95428 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar... |
ORPHA:616 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Depression, Clumsiness, Macroorchidism, Hypercholesterolemia, Abnormal circula... |
ORPHA:90674 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Partial absence of c... |
ORPHA:329224 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Neutrophilia, Weakness due to upper motor neuron dys... |
ORPHA:79139 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia |
ORPHA:1046 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites |
ORPHA:890 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,... |
OMIM:612714 |
Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... |
OMIM:616000 |
Meckel Syndrome 13 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Recurrent infections |
OMIM:300804 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased C... |
OMIM:607271 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphoc... |
ORPHA:3162 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Pulmonary fibrosis |
OMIM:612852 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Alg1-Cdg |
|
Cerebellar atrophy, Sepsis, Cerebral atrophy, Recurrent infections, Hypoalbuminemia |
ORPHA:79327 |
Optic Atrophy 11 |
|
Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypo... |
OMIM:617302 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign, Rhinitis |
ORPHA:93476 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Myoclonus, Lethargy, Pachygyria, Cerebral cortical atrophy |
OMIM:614922 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Insulinoma |
|
Tremor, Increased body weight, Paresthesia, Abnormality of pain sensation, Lethargy |
ORPHA:97279 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Hepatomegaly, Dyspnea, Respiratory insufficiency, Stridor, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:615182 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Lethargy, Failu... |
OMIM:251000 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian insuffic... |
ORPHA:199299 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Hypoalbuminemia, Cerebellar vermis atrophy, Decreased body weight |
OMIM:618347 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Depression, Head tre... |
ORPHA:314404 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations |
ORPHA:1143 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... |
ORPHA:36387 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Gray matter heterotopia, Cerebellar hypoplasia, Lethargy, Polymicrogyri... |
OMIM:617397 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy |
OMIM:617931 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Abnormal mitochondrial shape, Unsteady gait, Cerebral a... |
ORPHA:412217 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Apnea, Ataxia, Spasticit... |
OMIM:618426 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Small for gestational age |
OMIM:618302 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Transient hyperlipidemia, Hemiplegia/hemiparesis |
ORPHA:156 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Restrictive ventilatory defec... |
ORPHA:369840 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Increased body ... |
ORPHA:263455 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... |
OMIM:216360 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... |
ORPHA:545 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Gait disturbance |
OMIM:618012 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Ataxia, Hypertonia, Elevated circul... |
OMIM:248600 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Liver abscess, Sepsis, Pulmonary tuberculosis, Decreased circulating IgG level,... |
ORPHA:183675 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Multifocal Atrial Tachycardia |
|
Lethargy, Cryptorchidism |
ORPHA:3282 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Reduced sperm motility |
OMIM:602271 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... |
OMIM:618249 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Dystonia, Spasticity |
OMIM:619286 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Increased circulating thyroglobulin level, Failure to thrive in infancy, Spas... |
ORPHA:356961 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomotor apraxia, Spasti... |
OMIM:618087 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... |
ORPHA:352582 |
East Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circula... |
ORPHA:199343 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tr... |
ORPHA:10 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti... |
OMIM:620089 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Cerebral atrophy, Spastici... |
OMIM:272200 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterol... |
OMIM:306000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchie... |
OMIM:244400 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Scrub Typhus |
|
Tremor, Splenomegaly, Lethargy, Meningitis, Infectious encephalitis |
ORPHA:83317 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Thrombocytosis, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, Leukopeni... |
ORPHA:20 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l... |
ORPHA:95433 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... |
OMIM:617988 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... |
OMIM:213700 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal abscess, Cryptorchidism, Pate... |
OMIM:612541 |
Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp... |
OMIM:614482 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Gait disturbance, Sea-... |
OMIM:230600 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia |
OMIM:617276 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Bilateral cryptorchidism, Opisthotonus, Increased serum bile acid concentrati... |
OMIM:619685 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia |
OMIM:617162 |
Legionnaires Disease |
|
Ataxia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recurrent p... |
ORPHA:549 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance |
ORPHA:29822 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Pachygyria, Polymicrogyria |
OMIM:260565 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Tetanus |
|
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Spasticity of pharyn... |
ORPHA:3299 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Ataxia, Recurrent ear infections, Recurrent viral infections,... |
ORPHA:221139 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Microvesicular hepatic steatosis, Lateral ventricle dilatati... |
OMIM:300868 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... |
ORPHA:79330 |
Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... |
ORPHA:247245 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Recurrent pneumonia... |
OMIM:613807 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Abnormal medulla oblongata morphology, Ataxia, Abnor... |
ORPHA:68 |
Joubert Syndrome 15 |
|
Ataxia, Oculomotor apraxia, Ambiguous genitalia, Micropenis, Molar tooth sign on MRI |
OMIM:614464 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutar... |
ORPHA:35706 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Thrombocytopenia, S... |
ORPHA:781 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor |
ORPHA:97285 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcar... |
ORPHA:79284 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... |
OMIM:615387 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... |
OMIM:617091 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Peri... |
OMIM:618659 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Lethargy, Failure to thriv... |
ORPHA:97362 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Speech apraxia, Ataxia, Dystonia, Cer... |
OMIM:615356 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thromboc... |
OMIM:603553 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Apathy, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Th... |
ORPHA:391673 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:147060 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Parkinsonism, Akinesia, Tremor, Rigidity, Respiratory i... |
OMIM:168605 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Cryptorchidism, Obesity, Oculomotor apraxi... |
OMIM:619185 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Dystonia, Apnea, Splenomegaly, Abnormal pulmonary... |
OMIM:617050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ... |
OMIM:618805 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Cerebral atrophy |
ORPHA:166024 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... |
ORPHA:3260 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Athetosis, Clonus |
OMIM:266150 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Myoclonus, Loss of am... |
ORPHA:93399 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Acute hyperammonemia, Failure to thrive, Opisthotonus |
OMIM:210200 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Coiled sperm flagella, Recurrent sinusitis, S... |
OMIM:620197 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Microcytic anemia, Abnormal cerebellum morphology, Abnormal cerebella... |
ORPHA:324737 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy,... |
OMIM:267700 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating serine concen... |
ORPHA:470 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... |
ORPHA:35069 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elo... |
OMIM:618161 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Lymphopenia, Apla... |
OMIM:102700 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy |
ORPHA:42642 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S... |
OMIM:615851 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Absent outer dynein arms, Infertility, Recurrent sinusitis, Rec... |
OMIM:615500 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Cerebral atrophy, Limb dystonia |
OMIM:620269 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, Dystonia |
ORPHA:330021 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetrapar... |
OMIM:617186 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesi... |
OMIM:168600 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Iron a... |
ORPHA:496756 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Respiratory di... |
OMIM:260400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Moebius Syndrome |
|
Respiratory distress, Poor coordination, Clumsiness, Dysdiadochokinesis, Gait disturbance, Decrea... |
OMIM:157900 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... |
ORPHA:329178 |
Listeriosis |
|
Respiratory distress, Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Pneumoni... |
ORPHA:533 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Reduced sperm motility, Abnormal central microtubular pair morp... |
OMIM:612650 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Thrombocytopenia, Splenomegaly, Recurr... |
ORPHA:47612 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... |
OMIM:616586 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... |
OMIM:230800 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp... |
ORPHA:314655 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... |
OMIM:300400 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Encephalitis Lethargica |
|
Parkinsonism, Recurrent viral infections, Tremor, Increased circulating antibody level, Lethargy |
ORPHA:83600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Gliosi... |
OMIM:252160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Decreased body weight, Ataxia, Loss of ability to walk in first decade, Hyper... |
OMIM:300243 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Simplified gyral pattern, Myoclonus, Cerebral atrophy |
OMIM:619609 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Recurrent lower respiratory tract infect... |
OMIM:617802 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Atrophy/Degeneration affecting the ... |
ORPHA:263487 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cerebral atrophy, Secondary amenorrhea, Polyc... |
OMIM:268020 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:311250 |
Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy |
OMIM:108500 |
Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... |
ORPHA:569 |
Glutaric Acidemia I |
|
Hepatomegaly, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral v... |
OMIM:231670 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Sepsis, Hypertonia, Spasticity, Failure to thrive |
ORPHA:544503 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Mediastinal lympha... |
ORPHA:79128 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Abnormal central microtubular pair morphology of respiratory mo... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... |
OMIM:606763 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, He... |
OMIM:103050 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Hypertonia, Failure to thrive |
OMIM:601110 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hypospadias, Ataxia, Splenomegaly, Babinski sign, Tongue fasciculations, Hype... |
OMIM:252010 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Atrophy of the spinal co... |
ORPHA:79282 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... |
OMIM:615468 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... |
ORPHA:168491 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Broad-based gait, Ataxia, Cryptorchidism, Simplified gyral pattern, Dysmetria, Anemi... |
OMIM:616541 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Gliosis, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:261652 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem... |
OMIM:254900 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Recurrent sinusitis, Immoti... |
OMIM:614874 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Decreased ... |
OMIM:251290 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolyt... |
OMIM:274150 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Respiratory tract infection, Hydrocephalus, Dysmetria, Hepatosplenomegaly, ... |
ORPHA:93400 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia, Hyperventilation |
OMIM:612291 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Sepsis, Paresthesia, Lethargy, Infectious ... |
ORPHA:33475 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, ... |
OMIM:105210 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Failure to thrive, Impaired pain sensation, Inability to walk, Impaired dista... |
ORPHA:99949 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sensory impairment... |
ORPHA:3124 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor ... |
ORPHA:220497 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Hypersegmentation of neutro... |
OMIM:615578 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Mediastinal lymphadenopathy, Abnormal pyramida... |
ORPHA:3452 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia |
OMIM:620321 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis, Respiratory insufficiency |
OMIM:228000 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Cerebral palsy, Hyperammonemia, Opisthotonus, Hyperleucinemia, Lethargy, Fa... |
OMIM:210210 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Spasticity, Pachygyria, Cerebral cortic... |
OMIM:619576 |
Citrullinemia, Classic |
|
Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrull... |
OMIM:215700 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tet... |
OMIM:613744 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Fasciculations |
ORPHA:99965 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Hypertriglyceridemia, Ataxia, A... |
ORPHA:77293 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... |
ORPHA:17 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... |
OMIM:614034 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Increased ... |
ORPHA:528 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthot... |
ORPHA:206436 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity |
OMIM:618186 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Clonus, Thrombocytope... |
OMIM:259720 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... |
ORPHA:158048 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... |
ORPHA:1546 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Hypospadias, Ataxia, Increased mean platelet volume, Cryptorchidism, Patent d... |
OMIM:616737 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper re... |
ORPHA:51636 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hypospadias, Failure to thrive in infancy, Cryp... |
OMIM:611209 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... |
ORPHA:98915 |
Tangier Disease |
|
Hepatomegaly, Hypertriglyceridemia, Impaired temperature sensation, Impaired pain sensation, Sple... |
OMIM:205400 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Resting tremor, Crackles, Atelectasis, Leuko... |
ORPHA:319213 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spa... |
OMIM:252150 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Perisylvian polymicrogyria, Obesity... |
OMIM:618443 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... |
OMIM:619487 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Cerebellar vermis hypoplasia, Tremor, Microvesicular hepatic steatosis, Partial... |
OMIM:220111 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Torticollis, Ataxia, Limb hypertonia |
OMIM:618547 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Elevated ... |
ORPHA:400 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy, Cerebral atrophy |
OMIM:160900 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Somatic sensory dysfunction, Cerebellar atrophy, Ata... |
ORPHA:191 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Slurred speech, Gait disturbance, Myoclonus |
ORPHA:812 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ataxia, Large for gestational age, Patent ductus arteriosus, Babinski sign, C... |
OMIM:615398 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Dystonia, Limb hype... |
OMIM:616875 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... |
OMIM:557000 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Tetraparesis, Brain atrophy |
OMIM:619260 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... |
OMIM:619693 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal axonemal organization of respirat... |
OMIM:613808 |
Sepsis In Premature Infants |
|
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Jaundice, Dyspnea, Abno... |
ORPHA:90051 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Babinski sign, Tip-toe gait, Hypocalcemia, Lethargy, Frequent falls |
ORPHA:746 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... |
OMIM:235200 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Gait ataxia, Hyperto... |
ORPHA:255210 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Failure to thrive, Global brain atrophy, Hepatosplenomegaly |
OMIM:608776 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Inability to walk, Hydrocephalus, Hepatos... |
ORPHA:505248 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Impaired temperature sensation, Cardiomegaly,... |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Cryptorchidism, Cerebral a... |
OMIM:618143 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra... |
ORPHA:2131 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Abn... |
ORPHA:436271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Ataxia, Tremor, Hydrocephalus, Gait dist... |
ORPHA:475 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated super... |
OMIM:608629 |
Biotinidase Deficiency |
|
Ataxia, Recurrent viral infections, Hyperammonemia, Recurrent candida infections, Recurrent funga... |
ORPHA:79241 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia |
ORPHA:85212 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Poikilocytosis, Eleva... |
OMIM:615234 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophi... |
OMIM:618394 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Precocious puberty, Cerebellar vermis atrophy, Obe... |
ORPHA:163681 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Ataxia, Focal T2 hyperintense brainstem lesion, Lethargy, Failure to th... |
ORPHA:2609 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Abnormal pyramidal sign, Ataxia |
OMIM:201470 |
Joubert Syndrome 22 |
|
Oculomotor apraxia, Agenesis of cerebellar vermis, Temporal cortical atrophy, Molar tooth sign on... |
OMIM:615665 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Gait ataxia |
OMIM:617120 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
Joubert Syndrome 31 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait |
OMIM:301029 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor ... |
ORPHA:220493 |
Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... |
ORPHA:97287 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Recurrent pneumon... |
ORPHA:496641 |
Abetalipoproteinemia |
|
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... |
ORPHA:14 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... |
ORPHA:169090 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Truncal obesity |
ORPHA:633 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pn... |
OMIM:127550 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Ataxia, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Depression, Progressive cereb... |
ORPHA:502423 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Inability ... |
ORPHA:466768 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Recurrent respiratory infections, Small for gestational age, Cryptorchidism, ... |
OMIM:193700 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Hypospadias, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptor... |
ORPHA:468631 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Cerebral atrophy... |
OMIM:614080 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... |
ORPHA:811 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Intermittent epis... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Intermittent epis... |
ORPHA:590 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular necr... |
OMIM:201475 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Asthma, Hepat... |
OMIM:606003 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, Elevated cir... |
OMIM:608836 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Dysplastic corpus callosum, Hydrocele testis, Cerebellar hypoplasia, Hypocholestero... |
OMIM:618810 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymp... |
ORPHA:39041 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Dengue Fever |
|
Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia |
ORPHA:99828 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration, ... |
OMIM:619111 |
Coach Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Anemia |
OMIM:619113 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Absent inner and outer dynein arms, Infertility, Recurrent sinu... |
OMIM:615444 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration... |
OMIM:146500 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Cerebral atrophy, Testicular atrophy,... |
OMIM:222300 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Hypoplastic labia minora, Cerebral atrophy, Hypoplastic labia majora, Hyperto... |
OMIM:619124 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Recurrent infections, Hippocampal atrophy, Failure to thriv... |
OMIM:618922 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Ocul... |
OMIM:610688 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysmetria, Cerebral atrop... |
ORPHA:94147 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, Tip-toe gai... |
ORPHA:3008 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelect... |
ORPHA:365 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy, Ataxia, Depression, Cataplexy, Spasticity |
OMIM:604121 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Focal polymicrogyria, Crypto... |
OMIM:619103 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis... |
OMIM:608885 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Cerebral atrophy, D... |
OMIM:617804 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenes... |
OMIM:608091 |
Argininosuccinic Aciduria |
|
Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to th... |
OMIM:207900 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... |
OMIM:608233 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... |
OMIM:616084 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Spasticity, Opisthotonus |
OMIM:610678 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Impaired pain sensation |
OMIM:182290 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... |
ORPHA:86816 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventriculomegaly, Multiple pulmonary cysts, Hypertriglyceridemia,... |
OMIM:619418 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Joubert Syndrome 28 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617121 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy |
ORPHA:85414 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypo... |
OMIM:241410 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, Bile duct proliferation, H... |
OMIM:607361 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Cerebellar vermis atr... |
OMIM:617101 |
Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Splenomegaly, Rhinitis, Spastic paraparesis |
ORPHA:93474 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Myoclonus, Aspiration pneumonia, Dystonia, Left ventricular hypertrophy |
OMIM:619167 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic... |
ORPHA:464329 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Cerebellar vermis atrophy |
OMIM:618793 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypopl... |
OMIM:615574 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Respiratory insufficiency due to mu... |
OMIM:232300 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tr... |
ORPHA:25 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, Limb h... |
OMIM:619580 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Precocious puberty, Tremor, Pachygyria, Spasticity,... |
ORPHA:1934 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Abnormality of the lymphatic system... |
ORPHA:538 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, Precocious puberty, ... |
ORPHA:819 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Agenesis of corpus callosum, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, D... |
OMIM:612780 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Cerebral atroph... |
OMIM:261680 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly, Limb h... |
ORPHA:99742 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... |
ORPHA:77259 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Thrombocytopenia, Hypertonia, Hyperammonemia |
OMIM:253270 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Unilateral cryptorchidism, Bilateral cryptorchidism |
OMIM:300219 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Abnormality of neutroph... |
ORPHA:379 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:608647 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, 4-layered lissencephaly, Spastic tetraparesis, Spastic hemiparesis, Perisylvi... |
ORPHA:268940 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia,... |
OMIM:608022 |
Joubert Syndrome 16 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Axonal degeneration, Dystonia, Spasticity, Global brain atrophy |
OMIM:616811 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Autoimmune hemolytic anemia, Res... |
ORPHA:37042 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Small for gestational age, Spastic tetraplegia, Cerebral atrophy, Hyp... |
OMIM:251300 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Cryptorchidism, Lethargy |
OMIM:307030 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculomotor apraxia, Molar tooth sign on... |
OMIM:611560 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia, Cere... |
ORPHA:3309 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, P... |
ORPHA:60025 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... |
OMIM:614924 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Apnea, Tremor, Cryptorchidism, Jaundice, Respiratory insufficiency... |
OMIM:608093 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neonatal asphyxia, N... |
ORPHA:525731 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Depression, Bradykinesia, Male sexual dysfunction, Apathy, Gait imb... |
ORPHA:2828 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Res... |
ORPHA:33226 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Lymphatic Malformation 7 |
|
Respiratory distress, Chylothorax, Pleural effusion, Ascites, Anemia, Pulmonary edema |
OMIM:617300 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Persistent human papillomavirus infection, Increased ... |
ORPHA:48435 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Abscess, Respiratory tract infection, Peritonitis, Ta... |
ORPHA:36234 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Abnormal pulm... |
ORPHA:809 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Trichothiodystrophy |
|
Cryptorchidism, Recurrent bronchopulmonary infections, Abnormal pyramidal sign, Increased mean co... |
ORPHA:33364 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Simplified gyral pattern, Cerebellar vermis atrophy |
OMIM:615760 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Spasticity, Oromotor apraxia, Hepatosplenomegaly |
ORPHA:466934 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Poor coordination, Ataxia, Cerebral cortical atrophy |
OMIM:249310 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Apnea, Clonus, Tremor, Jaundice, Cerebral atrophy, Hypopnea, Respiratory failure, Hyper... |
OMIM:617248 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Pancytopenia, Spastic tetraparesis, ... |
OMIM:615846 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... |
ORPHA:478 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Trichinellosis |
|
Babinski sign, Increased circulating IgE level, Hemiparesis, Apathy, Hemiplegia, Lethargy, Mening... |
ORPHA:863 |
Joubert Syndrome 20 |
|
Oculomotor apraxia, Inability to walk, Molar tooth sign on MRI |
OMIM:614970 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Abnormal blood zinc concentration, Failure to thrive in infancy, Inability to... |
ORPHA:468699 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lympha... |
ORPHA:540 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Cough |
ORPHA:3386 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Oculomotor aprax... |
OMIM:615636 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic... |
OMIM:614700 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... |
OMIM:615415 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog... |
ORPHA:297 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Waddling gait, Frequent falls, Pulmonary hypoplasia, Pleural ... |
OMIM:620369 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Astrocytosis, Pulmona... |
ORPHA:258 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Recurrent infections, Cerebel... |
OMIM:618590 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Steatorrhea, Shawl scrotum, Failure to thrive |
OMIM:616263 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Extrapyramidal dyskinesia, Cough, Thrombocytosis, ... |
ORPHA:134 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai... |
ORPHA:2388 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, C... |
ORPHA:79095 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P... |
ORPHA:31204 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Thrombocytosis, Polycythemia, Recurre... |
ORPHA:2968 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Spastic paraplegia |
ORPHA:896 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Limb dystonia, Hepatic steatosis, Hepatomegaly, Hemol... |
OMIM:277900 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... |
ORPHA:478029 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Impaired vibratio... |
ORPHA:447753 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadri... |
OMIM:207800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... |
ORPHA:2330 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... |
OMIM:617799 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Hypertonia, Cerebellar hypoplasia |
ORPHA:50810 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea |
ORPHA:90037 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Hypogonadism, Ataxia |
OMIM:610651 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Recurrent pneumonia, Tac... |
ORPHA:1329 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Pachygyria, Simplified gyral pattern, Cerebral atrophy, Hypoalbuminemia, Liss... |
OMIM:617729 |
Hydranencephaly |
|
Spastic diplegia, Opisthotonus, Lethargy, Meningitis, Cerebral cortical atrophy |
ORPHA:2177 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Hepatomegaly, Recurrent respiratory infections, Dyspnea, Pulmonary venous hypertension... |
ORPHA:75249 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Dystonia, ... |
OMIM:610505 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Dyspnea, Exocrine pancreatic insufficiency, Babinski sign, Hyper... |
OMIM:616539 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:159 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Failure to thrive, Polycystic ovaries, Steatorrhea |
ORPHA:2176 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Hypoalbuminemia, Cerebellar hypoplasia, Hyperalaninemia, Spasticity, Failure ... |
OMIM:618329 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Respirato... |
ORPHA:537 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Cerebellar verm... |
OMIM:617330 |
Cadds |
|
Cerebellar atrophy, Increased circulating very long-chain fatty acid concentration, Dystonia |
ORPHA:369942 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Irregular menstruation, Polycystic ova... |
ORPHA:79259 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Abnormality of neuronal m... |
ORPHA:2754 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy |
OMIM:617763 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Thrombocyt... |
ORPHA:124 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive |
ORPHA:427 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Paralysis, Hepatosplenomegaly, Azoosperm... |
ORPHA:2072 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Coccidioidomycosis |
|
Respiratory distress, Eosinophilia, Pneumonia, Abscess, Abnormality of the spleen, Mediastinal ly... |
ORPHA:228123 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:619603 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ataxia, Splenomegaly, Abnormal pulm... |
ORPHA:77261 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Hypospadias, Cerebellar hypoplasia, Molar tooth sign on MRI, Micropenis... |
OMIM:614175 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Recurrent urinary tract infections, Pancytopenia, Ataxia, Spastic paraplegia,... |
ORPHA:309282 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Cardiomegaly, Dyspnea, Hemiparesis, Pulmonary arterial hypertension |
ORPHA:363705 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum |
ORPHA:990 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoo... |
OMIM:615751 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... |
ORPHA:444072 |
Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:619582 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Splenic cyst, Enlarged kidney, Ventriculomegaly |
OMIM:618188 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Spasticity, Abnormal mitochondrial shape |
ORPHA:485421 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Hydrocephalus, Respiratory failure, Pulmonary... |
OMIM:616482 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Ataxia, Tremor, Splenomegaly, Hydrocephalus, Hemipl... |
ORPHA:355 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Cerebellar malformation, Hemiplegia, Lethargy, Failure to thrive |
ORPHA:137675 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymph... |
OMIM:617591 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Pulmonary fibrosis, Emphysema, Lymphopenia... |
OMIM:620365 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Hepatomegaly, Apnea, Hyperventilation |
OMIM:229700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Aqueductal s... |
OMIM:306955 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... |
OMIM:615688 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea |
ORPHA:90033 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Cerebellar hypoplasia, Trach... |
OMIM:217980 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Abnormal cortical gyration, Rigidity, Progressive spastic quadriple... |
ORPHA:521426 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... |
ORPHA:369837 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Atelectasis, Respiratory insufficiency, Periportal fib... |
OMIM:269860 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba... |
OMIM:300966 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cardiomegaly, Hydrocep... |
ORPHA:228308 |
Craniosynostosis 6 |
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Cerebellar atrophy, Dandy-Walker malformation |
OMIM:616602 |
Primary Hepatic Neuroendocrine Carcinoma |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert... |
ORPHA:480898 |
3-Methylglutaconic Aciduria, Type Viia |
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Cerebellar atrophy, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Odontochondrodysplasia |
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Respiratory distress |
ORPHA:166272 |
Alexander Disease |
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Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Aqueductal stenosis, Abnormal pyramidal sign,... |
ORPHA:58 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis |
OMIM:207750 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Chiari type I malformation, Hypertonia, H... |
OMIM:270400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Arima Syndrome |
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Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebel... |
OMIM:243910 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Leukodystrophy, Hypomyelinating, 12 |
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Cerebellar atrophy, Spasticity |
OMIM:616683 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Recurren... |
ORPHA:586 |
Lathosterolosis |
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Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Chiari malformation, Myoc... |
ORPHA:46059 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Tremor, Hepatomegaly, Clonus, Cardiorespiratory arrest |
OMIM:619424 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Hypoplasia of the pons, Failure to thrive, Cerebellar atrophy, Cerebral atrophy |
OMIM:616430 |
Peho Syndrome |
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Cerebellar atrophy, Recurrent respiratory infections, Cerebral cortical atrophy, Atrophy/Degenera... |
ORPHA:2836 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Recurrent bacteri... |
OMIM:615895 |
Semilobar Holoprosencephaly |
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Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... |
ORPHA:93924 |
Nasolacrimal Duct Cyst |
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Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Pfeiffer Syndrome Type 2 |
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Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Tracheomalacia |
ORPHA:93259 |
Congenital Disorder Of Glycosylation, Type Iie |
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Cerebellar atrophy, Elevated circulating creatine kinase concentration, Splenomegaly, Cerebral at... |
OMIM:608779 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Lethargy |
OMIM:201450 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural... |
OMIM:620133 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Reduced sperm motility, Recurrent infections |
OMIM:615434 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Hyperammonemia, Hyperalan... |
OMIM:614052 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Broad-based gait, Ataxia, Cryptorchidism, Hypertonia, Gait disturbance, Gliosis, Cerebral cortica... |
ORPHA:268261 |
Cocaine Intoxication |
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Respiratory distress, Involuntary movements, Diffuse alveolar hemorrhage, Hyperventilation, Tremo... |
ORPHA:90068 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Respiratory distress |
OMIM:617102 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Dystonia 2, Torsion, Autosomal Recessive |
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Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Spinal muscular atrophy, type I, with congenital bone fractures |
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Respiratory distress, Degeneration of anterior horn cells |
OMIM:271225 |
Metachromatic Leukodystrophy |
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Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai... |
ORPHA:512 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Hypercholesterolemi... |
OMIM:238600 |
Gabriele-De Vries Syndrome |
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Waddling gait, Tremor, Cryptorchidism, Gliosis, Dystonia, Agenesis of corpus callosum, Ventriculo... |
ORPHA:506358 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism |
ORPHA:1555 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Apnea, Cardiomegaly, Hydrocephalus, Pleural effusion, Ascites, Enlarged kid... |
OMIM:261740 |
Caroli Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Respiratory distress, Recurrent respiratory infections, Cerebellar hypoplasia, Dandy-Walker malfo... |
OMIM:300968 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Recurrent respiratory infections, Apnea, Tremor, Splenomegaly, Hydrocephalus, Pulmo... |
ORPHA:667 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Respiratory distress, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculo... |
OMIM:123790 |
Sandifer Syndrome |
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Anemia, Torticollis, Abnormal posturing |
ORPHA:71272 |
Esophageal Atresia |
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Respiratory distress, Recurrent respiratory infections, Vocal cord paresis, Bronchitis, Episodic ... |
ORPHA:1199 |
Kniest Dysplasia |
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Respiratory distress, Gait disturbance, Tracheomalacia |
OMIM:156550 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Hypogonadotropic hypogonadism, Overweight, Abnormal cerebellum morphology, Lethargy, Abnormal cir... |
ORPHA:226307 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Cerebellar atrophy, Cerebral atrophy |
OMIM:616266 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory distress, Torticollis, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respirato... |
ORPHA:536467 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Polycythemia Vera |
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Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom... |
ORPHA:729 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
Scimitar Syndrome |
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Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Thrombocytopeni... |
ORPHA:50918 |
Joubert Syndrome 14 |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem,... |
OMIM:614424 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Cerebellar atrophy, Failure to thrive, Elevated circulating creatine kinase concentration |
OMIM:610131 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration, Unsteady gait, Agenesis of corpus callosum |
OMIM:618733 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent respiratory infections, Cryptorchidism, Lateral ventricle dilatation, Gliosis, Enlarged... |
OMIM:615873 |
Aicardi-Goutières Syndrome |
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Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune th... |
ORPHA:51 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Gray matter heterotopia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617563 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections, Eosinophilia, Cough |
ORPHA:2314 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Joubert Syndrome 1 |
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Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Brainstem ... |
OMIM:213300 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Recurrent respiratory infections, Cerebellar vermis hypoplasia, Hypospadias, Abnormal cerebellum ... |
ORPHA:397715 |
Papillorenal Syndrome |
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Chiari type I malformation, Gliosis |
OMIM:120330 |
Cockayne Syndrome A |
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Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Splenomegaly, Irregular menstruation, Cerebra... |
OMIM:216400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
Ethylene Glycol Poisoning |
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Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Myoclonus, Abnormal pattern of ... |
ORPHA:31826 |
Unilateral Polymicrogyria |
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Involuntary movements, Perisylvian polymicrogyria, Spastic tetraplegia, Hemiparesis, Poor fine mo... |
ORPHA:268943 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Unilateral vocal cord paralysis, Cerebral atro... |
OMIM:301030 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Cerebellar atrophy, Splenomegaly |
OMIM:618541 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Anemia |
OMIM:612301 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy |
ORPHA:173 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Incoordination, Hypoplasia of the pons, Obesity, Subcortical cerebral atrophy... |
ORPHA:468678 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Cerebellar hypo... |
ORPHA:79329 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Joubert Syndrome 9 |
|
Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:612285 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... |
OMIM:613177 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnorm... |
ORPHA:141127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Elevated circulating alpha-fetoprotein concentration, Tremor, Patent ductus a... |
ORPHA:280633 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Dyspnea, Tachypnea, Anemia |
OMIM:239200 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary arterial hypertensi... |
ORPHA:71493 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Brain atrophy |
OMIM:607131 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:614815 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Inability to walk, Recurrent infections, Truncal ataxia, Global brain atrophy |
OMIM:620066 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Abnormality of extrapyramidal motor function, Bo... |
OMIM:612199 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Spastic tetraparesis, Inability to walk, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:495818 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Pneumonia, Bronchitis, Hypersplenism, Thrombocytopenia... |
ORPHA:1304 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Annular pancreas, Vocal cord paralysis, Spasticity, Ep... |
ORPHA:798 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hy... |
OMIM:619306 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Respiratory insufficiency, A... |
OMIM:222700 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Chiari malformation, Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis,... |
ORPHA:340 |
Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Hydrocephalus, Pulmonary hypoplasia |
OMIM:100800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary h... |
ORPHA:83617 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis |
OMIM:619471 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
Cirrhosis, Familial |
|
Lethargy, Increased level of propylene glycol in blood |
OMIM:215600 |
Adnp Syndrome |
|
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Cerebral atro... |
ORPHA:404448 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level |
ORPHA:226316 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia |
ORPHA:2479 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:151210 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Paresthesia, Inspiratory stridor |
ORPHA:100050 |
Zygomycosis |
|
Brain abscess, Sinusitis, Epistaxis, Cough, Mediastinal lymphadenopathy, Peritonitis, Atelectasis... |
ORPHA:73263 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
African Trypanosomiasis |
|
Hepatomegaly, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements... |
ORPHA:3385 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Plague |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Lymphadenitis, Unsteady gait, Slurred speech, E... |
ORPHA:707 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Anomal... |
ORPHA:555874 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Depression, Weight loss, Increased circulating cortisol level, Impotence, Primary ... |
ORPHA:652 |
Posterior Urethral Valve |
|
Lethargy, Recurrent urinary tract infections |
ORPHA:93110 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus |
OMIM:231005 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Pleural effusion, ... |
OMIM:249100 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Joubert Syndrome 17 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:614615 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Hypospadias, Increased mean platelet volume, Thrombocytopenia, Patent ductus ... |
ORPHA:487796 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Splenomegaly, Recurrent upper respiratory tract infections, Difficulty walkin... |
OMIM:252940 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Cough, Elevated serum t... |
ORPHA:509 |
Joubert Syndrome 39 |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Oculomotor apraxia, Molar tooth sig... |
OMIM:619562 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Tremor, Inability to walk, Abnorma... |
ORPHA:86309 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Waddling gait |
OMIM:183900 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Dyspnea, Pancreatitis |
ORPHA:565612 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Lateral ventricle dilatation, Cerebral co... |
ORPHA:177907 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism |
ORPHA:2519 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Subependymal g... |
ORPHA:805 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Clonus, Cryptorchidism, Depression... |
ORPHA:534 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Hypergonadotropic hypogonadism, Inability to walk, Decreased fertility, De... |
ORPHA:273 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Periodic paralysis, Splenomeg... |
OMIM:276700 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Recurrent infections, Recurrent bacterial infec... |
ORPHA:2273 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Brain abscess, Increased pulmonary vascular resistance, Wheez... |
ORPHA:97214 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... |
OMIM:613658 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Spasticity |
ORPHA:163746 |
Colchicine Poisoning |
|
Respiratory distress, Leukocytosis, Cardiorespiratory arrest |
ORPHA:31824 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Large for gestational age, Cerebral cortical atrophy, Gait ataxia |
OMIM:617011 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Pneumothorax, Gliosis |
OMIM:617403 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicu... |
OMIM:619321 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory distress, Incoordination, Respiratory tract infection, Bilateral cr... |
OMIM:180849 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Respiratory failure requiri... |
ORPHA:99125 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Liver abscess, Obesity |
ORPHA:69663 |
Alg9-Cdg |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Cerebral atrophy, Bicornuate uterus, Hypo... |
ORPHA:79328 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respirato... |
OMIM:232240 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive |
OMIM:229600 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Leukopenia, Cough, Emphysema, Hemolytic anemia,... |
ORPHA:797 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Ambiguous genitalia, Molar tooth... |
OMIM:616300 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Clonus, Babinski sign, Dysmetria, Gait ataxia, D... |
OMIM:606721 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Hepatomegaly, Respiratory distress |
OMIM:617088 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... |
OMIM:616268 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Paralysis, Iron deficiency anemia, Paresthesia, P... |
ORPHA:358 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Respiratory distress, Cerebellar vermis hypoplasia, Cyst of the ductus ... |
ORPHA:480880 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Digeorge Syndrome |
|
Thrombocytopenia, Splenomegaly, Atelectasis, Recurrent pneumonia, Chronic pulmonary obstruction, ... |
OMIM:188400 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Periventricular heterotopia, Aqueductal stenosis, Partial absence of cerebell... |
OMIM:619895 |
22Q11.2 Deletion Syndrome |
|
Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Atelectasis, Abnormal lung lobation, Ast... |
ORPHA:567 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hydrocephalus, Recurrent upper respir... |
OMIM:114290 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Joubert Syndrome 5 |
|
Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Oculomotor ap... |
OMIM:610188 |
Alström Syndrome |
|
Respiratory distress, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepato... |
ORPHA:64 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Cryptorchidism, Emphysema |
OMIM:224690 |
Joubert Syndrome 38 |
|
Oculomotor apraxia, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Molar to... |
OMIM:619476 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertrophy, Polycyst... |
OMIM:151660 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Polymicrogyria |
OMIM:267750 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Hepatitis, Cough, Abnormal pattern of respiration |
ORPHA:728 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Abnormal midbrain morphology, Impaired pain sensation, Hyperlipidemia, Recurrent up... |
ORPHA:293987 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology, Decreased body weight |
ORPHA:314621 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Dandy-Walker malformation |
OMIM:611134 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Poor coordination, Nasal flaring, Ventriculomegaly |
ORPHA:466943 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Accessory spleen, External genital hypoplasia, Asplenia, Cryptorchidism... |
OMIM:249000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Anemia |
ORPHA:79404 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Hypertonia, Spasticity |
OMIM:618367 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Reduced sperm ... |
ORPHA:730 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Micropenis, P... |
OMIM:616546 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal testis morphology, Ag... |
ORPHA:2556 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, Exertional ... |
ORPHA:2299 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Periventricular nodular heterotopia, Failu... |
OMIM:277170 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentratio... |
OMIM:175780 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Chand Syndrome |
|
Atelectasis, Ataxia |
ORPHA:1401 |
Doors Syndrome |
|
Respiratory distress, Small cerebellar cortex, Myoclonus, Aspiration pneumonia, Thrombocytosis, D... |
ORPHA:79500 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Gliosis |
OMIM:618846 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cryptorchidism |
ORPHA:2554 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Waddling gait, Recurrent pneumonia, Acute myelomonocytic leukemia, Abnormal... |
ORPHA:99646 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia |
ORPHA:3206 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Epispadias, Patent ductus arteriosus, ... |
OMIM:615948 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... |
ORPHA:95455 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Hypospadias |
OMIM:210730 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Exocrine pancreatic insufficiency, Pulmonary artery stenosis, Biliary atres... |
ORPHA:2255 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Dandy-Walker malformation |
OMIM:156610 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... |
OMIM:309000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Recurrent respiratory infections, Conjugated hyperbilirubinemia, Increased circulating ferritin c... |
OMIM:619534 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Micropenis, Hypospadias, Molar tooth sign on MRI |
OMIM:619479 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Cryptorchidism |
OMIM:166250 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation, Global brain atrophy, Exocrine pancreatic insuffici... |
ORPHA:508488 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Pate... |
ORPHA:434179 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Cerebellar vermis hypoplasia, Ataxia, Abnorm... |
ORPHA:79318 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Monosomy 22Q13.3 |
|
Recurrent pyelonephritis, Cerebellar cortical atrophy, Obesity, Impaired pain sensation |
ORPHA:48652 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Asplenia, Patent ductus arteriosus, Cerebral atrophy, Cerebellar hypoplasia |
OMIM:270100 |
Cancer-Associated Retinopathy |
|
Diffuse cerebellar atrophy, Prostate cancer, Testicular neoplasm, Uterine neoplasm |
ORPHA:71505 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Somatic sensory dysfunction, Abscess, Impaired temperature sensation, Distal ... |
ORPHA:642 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cardiomegaly, Hepatic calcification, Pulmonary arterial hypertension, Ascit... |
ORPHA:51608 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |